ClinVar Miner

Submissions for variant NC_000013.11:g.(?_32339892)_(32342875_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543811 SCV000635100 pathogenic Hereditary breast ovarian cancer syndrome 2017-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature in individuals with a BRCA2-related disease, loss-of-function variants including gross deletions in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is a gross deletion of the genomic region encompassing part of exon 11 of the BRCA2 gene, including the exon 11-intron 11 boundary (c.5537_6841+1679del). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product.

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